Abstract

We present a 75-year-old female, Ms. W, with systemic scleroderma and Hypertrophic Cardiomyopathy (HCM) who was evaluated for one-year history of swelling in her ankles and feet. Cardiac auscultation revealed a left lower sternal border ejection systolic murmur that increased with Valsalva maneuver. ECG was consistent with Left Ventricular (LV) hypertrophy whereas transthoracic echocardiogram and cardiac MRI revealed increased LV wall thickness with asymmetric involvement of the apex and circumferential pericardial effusion. Although genetic mutations of cardiomyocyte sarcomeric proteins have been implicated in HCM, screening in several HCM cohorts have failed to identify genetic mutations in a substantial proportion of cases. A predisposition for HCM with certain human leukocyte antigen subtypes has been reported. In addition, an increased prevalence of HCM has been reported in chronic hepatitis C virus infection, a disease with multiple extra-hepatic autoimmune manifestations. Thus the occurrence of HCM in patients with autoimmune diseases such as systemic scleroderma may indicate potential autoimmune mechanism. Studies testing the hypothesis that autoimmune mechanisms are involved in producing the HCM phenotype, at least in patients with no identifiable genetic mutation affecting sarcomeric proteins, are needed.